rs13219181

chr6-27168446-A-G

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The variant allele was found at a frequency of 0.14 in 152,212 control chromosomes in the GnomAD database, including 1,631 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency: Genomes: 𝑓 0.14 (1631 hom., cov: 32)
• Consequence: Unknown
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.127

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.89).
• BA1: GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.167 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt

Frequencies

GnomAD3 genomes AF: 0.140 AC: 21270 AN: 152092 Hom.: 1631 Cov.: 32

Gnomad AFR AF: 0.141

Gnomad AMI AF: 0.209

Gnomad AMR AF: 0.107

Gnomad ASJ AF: 0.0827

Gnomad EAS AF: 0.00852

Gnomad SAS AF: 0.0935

Gnomad FIN AF: 0.0901

Gnomad MID AF: 0.139

Gnomad NFE AF: 0.170

Gnomad OTH AF: 0.126

We have no GnomAD4 exomes data on this position. Probably position not covered by the project.

GnomAD4 genome AF: 0.140 AC: 21270 AN: 152212 Hom.: 1631 Cov.: 32 AF XY: 0.133 AC XY: 9914 AN XY: 74442

Gnomad4 AFR AF: 0.141

Gnomad4 AMR AF: 0.107

Gnomad4 ASJ AF: 0.0827

Gnomad4 EAS AF: 0.00854

Gnomad4 SAS AF: 0.0921

Gnomad4 FIN AF: 0.0901

Gnomad4 NFE AF: 0.170

Gnomad4 OTH AF: 0.124

Alfa AF: 0.163 Hom.: 551

Bravo AF: 0.142

Asia WGS AF: 0.0590 AC: 206 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.89
Cadd	Benign	3.5
Dann	Benign	0.69

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Other links and lift over

dbSNP: rs13219181; hg19: chr6-27136225;